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Wyszukujesz frazę ""Chromosome Aberrations"" wg kryterium: Temat


Tytuł:
The association between a carrier state of FMR1 premutation and numeric sex chromosome variations.
Autorzy:
Malcov M; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Blickstein O; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Brabbing-Goldstein D; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Reches A; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Genetic Institute at Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Kalma Y; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Fouks Y; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Boston IVF-The Eugin Group, Waltham, MA, USA.
Azem F; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Cohen Y; IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. .
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Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2023 Mar; Vol. 40 (3), pp. 683-688. Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Carrier State*
Chromosome Aberrations*
Humans ; Female ; Retrospective Studies ; Case-Control Studies ; Sex Chromosome Aberrations ; Sex Chromosomes ; Fragile X Mental Retardation Protein/genetics
Czasopismo naukowe
Tytuł:
Safety evaluation of vitamin K2 (menaquinone-7) via toxicological tests.
Autorzy:
Hwang SB; Department of Quality, GF Fermentech, Inc., Sejong, 30077, South Korea.
Choi MJ; Department of Quality, GF Fermentech, Inc., Sejong, 30077, South Korea.
Lee HJ; Department of Quality, GF Fermentech, Inc., Sejong, 30077, South Korea.
Han JJ; GF Fermentech, Inc., R&D Institute, Daejon, South Korea. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 05; Vol. 14 (1), pp. 5440. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Bacillus subtilis*
Humans ; Mice ; Cricetinae ; Animals ; Rats ; Mice, Inbred ICR ; Vitamin K 2/toxicity ; Mutation ; Cricetulus
Czasopismo naukowe
Tytuł:
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Autorzy:
Krausz C; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, University Hospital Careggi, Florence, Italy.
Navarro-Costa P; EvoReproMed Lab, Environmental Health Institute (ISAMB), Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Gulbenkian Science Institute, Oeiras, Portugal.
Wilke M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany.
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Źródło:
Andrology [Andrology] 2024 Mar; Vol. 12 (3), pp. 487-504. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Andrology*
Infertility, Male*/diagnosis
Infertility, Male*/genetics
Infertility, Male*/pathology
Azoospermia*/diagnosis
Azoospermia*/genetics
Azoospermia*/pathology
Oligospermia*/diagnosis
Oligospermia*/genetics
Sertoli Cell-Only Syndrome*/genetics
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Humans ; Male ; Semen ; Chromosome Deletion ; Chromosomes, Human, Y/genetics ; Multiplex Polymerase Chain Reaction
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Tytuł:
Practical considerations in clinical application of WHO 5th and ICC classification schemes for acute myeloid leukemia.
Autorzy:
Chandra DJ; Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA; Division of Hematology & Medical Oncology, Department of Medicine, Oregon Health & Science University, Portland, OR, USA.
Lachowiez CA; Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA; Division of Hematology & Medical Oncology, Department of Medicine, Oregon Health & Science University, Portland, OR, USA.
Loghavi S; Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA. Electronic address: .
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Źródło:
Blood reviews [Blood Rev] 2024 Mar; Vol. 64, pp. 101156. Date of Electronic Publication: 2023 Nov 25.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Chromosome Aberrations*
Leukemia, Myeloid, Acute*/diagnosis
Leukemia, Myeloid, Acute*/genetics
Leukemia, Myeloid, Acute*/therapy
Humans ; Mutation ; World Health Organization
Czasopismo naukowe
Tytuł:
Primary pulmonary myxoid sarcoma with EWSR1::CREB1 fusion: a literature review.
Autorzy:
Miao X; The Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, 310053, People's Republic of China.; Zhejiang Key Laboratory of Diagnosis and Treatment Technology On Thoracic Oncology (Lung and Esophagus), Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.; Department of Thoracic Medical Oncology, Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.
Chen J; Zhejiang Key Laboratory of Diagnosis and Treatment Technology On Thoracic Oncology (Lung and Esophagus), Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.; Department of Thoracic Medical Oncology, Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.; Postgraduate Training Base Alliance of Wenzhou Medical University (Zhejiang Cancer Hospital), Hangzhou, Zhejiang, 310022, People's Republic of China.
Yang L; Zhejiang Key Laboratory of Diagnosis and Treatment Technology On Thoracic Oncology (Lung and Esophagus), Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.; Department of Thoracic Medical Oncology, Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China.; Postgraduate Training Base Alliance of Wenzhou Medical University (Zhejiang Cancer Hospital), Hangzhou, Zhejiang, 310022, People's Republic of China.
Lu H; Zhejiang Key Laboratory of Diagnosis and Treatment Technology On Thoracic Oncology (Lung and Esophagus), Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China. .; Department of Thoracic Medical Oncology, Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, People's Republic of China. .
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Źródło:
Journal of cancer research and clinical oncology [J Cancer Res Clin Oncol] 2024 Feb 29; Vol. 150 (3), pp. 108. Date of Electronic Publication: 2024 Feb 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Chromosome Aberrations*
Sarcoma*/diagnosis
Sarcoma*/genetics
Sarcoma*/therapy
Female ; Male ; Middle Aged ; Humans ; RNA-Binding Protein EWS/genetics ; Retrospective Studies ; Diagnosis, Differential ; Cyclic AMP Response Element-Binding Protein/genetics
Czasopismo naukowe
Tytuł:
Dynamics of Chromosome Aberrations and Cell Death in Zebrafish Embryos Exposed to Cs Total-Body Irradiation.
Autorzy:
Asana Marican HT; Singapore Nuclear Research and Safety Initiative, National University of Singapore, CREATE Tower, 1 Create Way, Singapore 138602, Singapore.
Shen H; Singapore Nuclear Research and Safety Initiative, National University of Singapore, CREATE Tower, 1 Create Way, Singapore 138602, Singapore.
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Źródło:
Environmental science & technology [Environ Sci Technol] 2024 Feb 06; Vol. 58 (5), pp. 2204-2213. Date of Electronic Publication: 2024 Jan 25.
Typ publikacji:
Journal Article
MeSH Terms:
Zebrafish*/genetics
Chromosome Aberrations*
Animals ; Gamma Rays ; Chromosomes ; Apoptosis ; Embryo, Nonmammalian/radiation effects
Czasopismo naukowe
Tytuł:
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control study.
Autorzy:
Pazoki N; Department of Genetics, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Salehi M; Department of Biology, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Angaji SA; Department of Cell and Molecular Biology, School of Biological Sciences, Kharazmi University, Tehran, Iran.
Abdollahpour-Alitappeh M; Cellular and Molecular Biology Research Center, Larestan University of Medical Sciences, Larestan, Iran.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2392.
Typ publikacji:
Journal Article
MeSH Terms:
Semen*
Abortion, Habitual*/genetics
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Chromosome Deletion*
Infertility, Male*
Female ; Pregnancy ; Male ; Humans ; Iran ; Case-Control Studies ; Sperm Motility ; Y Chromosome ; Chromosomes, Human, Y
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Tytuł:
New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication.
Autorzy:
Ozyavuz Cubuk P; Department of Medical Genetics, Haseki Education and Research Hospital, Health Sciences University, Istanbul, Turkey. .
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Źródło:
Molecular biology reports [Mol Biol Rep] 2024 Feb 01; Vol. 51 (1), pp. 243. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Aberrations*
Genomics*
Humans ; Mutation ; Trisomy/genetics
Czasopismo naukowe
Tytuł:
Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort.
Autorzy:
Carrillo YD; Laboratorio Clínico Especializado, Clinica Universitaria Colombia, Clínica Colsanitas, Bogotá, Colombia.
Rueda-Gaitán P; Laboratorio Clínico Especializado, Clinica Universitaria Colombia, Clínica Colsanitas, Bogotá, Colombia.
Gualdrón O; Laboratorio Clínico Especializado, Clinica Universitaria Colombia, Clínica Colsanitas, Bogotá, Colombia.; Grupo de investigación INPAC, Grupo Keralty, Bogotá, Colombia.
Estrada-Serrato C; Grupo de Genética Médica, Clínica Universitaria Colombia y Clínica Pediátrica Colsanitas, Clínica Colsanitas, Bogotá, Colombia.
Castro-Cuesta TA; Grupo de Genética Médica, Clínica Universitaria Colombia y Clínica Pediátrica Colsanitas, Clínica Colsanitas, Bogotá, Colombia.
Londoño O; Grupo de Genética Médica, Clínica Universitaria Colombia y Clínica Pediátrica Colsanitas, Clínica Colsanitas, Bogotá, Colombia.
Rodríguez-Salazar L; Laboratorio Clínico Especializado, Clinica Universitaria Colombia, Clínica Colsanitas, Bogotá, Colombia.
Isaza-Ruget M; Grupo de investigación INPAC, Grupo Keralty, Bogotá, Colombia.; Fundación Universitaria Sanitas, Grupo de investigación INPAC, Bogotá, Colombia.; Laboratorio Clínico y de Patología, Clínica Colsanitas, Grupo Keralty, Bogotá, Colombia.
Arcos-Burgos M; Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
López Rivera JJ; Laboratorio Clínico Especializado, Clinica Universitaria Colombia, Clínica Colsanitas, Bogotá, Colombia.; Grupo de investigación INPAC, Grupo Keralty, Bogotá, Colombia.; Grupo de Genética Médica, Clínica Universitaria Colombia y Clínica Pediátrica Colsanitas, Clínica Colsanitas, Bogotá, Colombia.; Clínica Pediátrica, Clínica Colsanitas, Bogotá, Colombia.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 218-225. Date of Electronic Publication: 2023 Oct 05.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Chromosomes*
Humans ; Microarray Analysis ; Chromosomes, Human, Pair 15 ; DNA Copy Number Variations/genetics
Czasopismo naukowe
Tytuł:
Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence.
Autorzy:
Hanson C; Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland, USA.
Blumenthal J; Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland, USA.
Clasen L; Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland, USA.
Guma E; Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland, USA.
Raznahan A; Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 150-159. Date of Electronic Publication: 2023 Sep 28.
Typ publikacji:
Journal Article
MeSH Terms:
Sex Chromosome Aberrations*
Sex Chromosomes*
Male ; Female ; Humans ; Child ; Adolescent ; Body Mass Index ; Karyotype ; Aneuploidy
Czasopismo naukowe
Tytuł:
SVvalidation: A long-read-based validation method for genomic structural variation.
Autorzy:
Zheng Y; School of Computer Science, Northwestern Polytechnical University, Xi'an, China.
Shang X; School of Computer Science, Northwestern Polytechnical University, Xi'an, China.
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Źródło:
PloS one [PLoS One] 2024 Jan 05; Vol. 19 (1), pp. e0291741. Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Genomic Structural Variation*
Humans ; Research Design ; Genomics ; Heterozygote
Czasopismo naukowe
Tytuł:
Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
Autorzy:
Wang C; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Mei L; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Wan Y; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Li H; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Luan S; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Lu J; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Wang P; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Wen L; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Han X; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Li X; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
Zhang N; Genetics and Prenatal Diagnosis Center, the No. 1 People's Hospital of Fuyang, Fuyang, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2352.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Chromosome Aberrations*
Intellectual Disability*
Pregnancy ; Humans ; Female ; Retrospective Studies ; Ultrasonography, Prenatal ; Chromosomes, Human, Pair 15
SCR Disease Name:
Duplication 15q11-q13 Syndrome
Czasopismo naukowe
Tytuł:
Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.
Autorzy:
Xiao Y; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.
Cheng D; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China.
Luo K; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China.
Li M; National Engineering and Research Center of Human Stem Cells, Changsha, 410023, Hunan, China.; Hunan Guangxiu Hospital, Changsha, 410023, Hunan, China.
Tan Y; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China.
Lin G; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China.; National Engineering and Research Center of Human Stem Cells, Changsha, 410023, Hunan, China.; Hunan International Scientific and Technological Cooperation Base of Development and Carcinogenesis, Changsha, 410008, Hunan, China.
Hu L; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410008, Hunan, China. .; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410023, Hunan, China. .; National Engineering and Research Center of Human Stem Cells, Changsha, 410023, Hunan, China. .; Hunan International Scientific and Technological Cooperation Base of Development and Carcinogenesis, Changsha, 410008, Hunan, China. .
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Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Jan; Vol. 41 (1), pp. 147-159. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Journal Article
MeSH Terms:
Translocation, Genetic*/genetics
Chromosome Aberrations*
Humans ; Chromosome Breakpoints ; Mutation ; Gene Rearrangement/genetics
Czasopismo naukowe
Tytuł:
Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor-forming potential in an early-stage prostate cancer epithelial subline (M2205).
Autorzy:
Paulraj P; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.; Neogenomics, Phoenix, Arizona, USA.
Barrie E; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.
Jackson-Cook C; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.; Department of Human & Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2307. Date of Electronic Publication: 2023 Oct 30.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Prostatic Neoplasms*/genetics
Humans ; Male ; Prostate ; Cytogenetic Analysis ; Chromosome Mapping ; Intracellular Signaling Peptides and Proteins
Czasopismo naukowe
Tytuł:
High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population.
Autorzy:
Pandith AA; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India. .
Manzoor U; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.; School of Life and Basic Sciences, Jaipur National University, Jaipur, 302025, India.
Amin I; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.; Department of Clinical Biochemistry, University of Kashmir, J&K, India.
Dil-Afroze; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Ahmad A; Department of Obstetrics and Gynecology, SKIMS, Srinagar, J&K, India.
Rashid M; Department of Obstetrics and Gynecology, SKIMS, Srinagar, J&K, India.
Zargar MH; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Rah S; Department of Obstetrics and Gynaecology, LD Hospital, Srinagar, J&K, India.
Dar FA; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Qasim I; Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India.
Sanadhya D; School of Life and Basic Sciences, Jaipur National University, Jaipur, 302025, India.
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Źródło:
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2022 Jun; Vol. 305 (6), pp. 1393-1408. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abortion, Habitual*/epidemiology
Chromosome Aberrations*
Aneuploidy ; Chromosome Deletion ; Chromosomes, Human, Y ; Consanguinity ; Female ; Humans ; Incidence ; Infertility, Male ; Male ; Pregnancy ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; Translocation, Genetic ; Y Chromosome
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Tytuł:
A reliable technique for karyotyping mouse oocytes prepared by a gradual fixation/air-drying method followed by multicolour FISH.
Autorzy:
Hino T; Department of Biological Sciences, Asahikawa Medical University, Midorigaoka-Higashi 2-1-1-1, Asahikawa 078-8510, Japan.
Kusakabe H; Department of Biological Sciences, Asahikawa Medical University, Midorigaoka-Higashi 2-1-1-1, Asahikawa 078-8510, Japan.
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Źródło:
Biology open [Biol Open] 2023 Dec 15; Vol. 12 (12). Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Oocytes*
Chromosome Aberrations*
Female ; Animals ; Mice ; Karyotyping ; Aneuploidy ; Meiosis
Czasopismo naukowe
Tytuł:
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.
Autorzy:
Xiao H; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Chen H; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Chen X; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Lu Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Wu B; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Wang H; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Cao Y; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Hu L; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Dong X; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. .
Zhou W; Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. .; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. .; Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. .; Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510005, China. .
Yang L; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. .
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Źródło:
Genome medicine [Genome Med] 2023 Dec 13; Vol. 15 (1), pp. 112. Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Journal Article
MeSH Terms:
Intensive Care Units, Neonatal*
Chromosome Aberrations*
Child ; Infant, Newborn ; Humans ; Gestational Age ; China ; Prognosis
Czasopismo naukowe
Tytuł:
Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review.
Autorzy:
Vanjari N; School of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Tang G; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Toruner GA; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Wang W; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Thakral B; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Zhao M; School of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Dave BJ; Department of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Khoury JD; Department of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Medeiros LJ; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Tang Z; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.; Department of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
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Źródło:
Genes [Genes (Basel)] 2023 Dec 08; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 08.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Chromosome Aberrations*
Myeloproliferative Disorders*/genetics
Humans ; In Situ Hybridization, Fluorescence ; Disease Progression ; Chromosome Mapping ; Janus Kinase 2/genetics
Recenzja
Tytuł:
Optical Genome Mapping as a Tool to Unveil New Molecular Findings in Hematological Patients with Complex Chromosomal Rearrangements.
Autorzy:
Coccaro N; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Zagaria A; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Anelli L; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Tarantini F; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Tota G; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Conserva MR; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Cumbo C; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Parciante E; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Redavid I; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Ingravallo G; Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Minervini CF; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Minervini A; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Specchia G; School of Medicine, University of Bari 'Aldo Moro', 70124 Bari, Italy.
Musto P; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
Albano F; Hematology and Stem Cell Transplantation Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.
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Źródło:
Genes [Genes (Basel)] 2023 Dec 05; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 05.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Humans ; In Situ Hybridization, Fluorescence/methods ; Karyotyping ; Cytogenetic Analysis/methods ; Restriction Mapping
Czasopismo naukowe
Tytuł:
Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients.
Autorzy:
Scarpelli I; Oncogenomic laboratory, Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
Stalder VB; Oncogenomic laboratory, Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
Tsilimidos G; Hematology Service and Central Laboratory of Hematology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Rapakko K; Oncogenomic laboratory, Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
Costanza M; Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
Blum S; Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
Schoumans J; Oncogenomic laboratory, Hematology Service, University Hospital and University of Lausanne, Lausanne, Switzerland.
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Źródło:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2023 Dec; Vol. 62 (12), pp. 721-731. Date of Electronic Publication: 2023 Jul 14.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Aberrations*
Myelodysplastic Syndromes*/diagnosis
Myelodysplastic Syndromes*/genetics
Myelodysplastic Syndromes*/therapy
Humans ; Chromosome Banding
Czasopismo naukowe

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